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Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenital (Becker disease) carrying a new mutation in the CLCN1 gene
(Revista de Biología Tropical 56(1) p.1-11, 2006-08-18)
Myotonia congenita is a muscular disease characterized by myotonia, hypertrophy, and stiffness. It
is inherited as either autosomal dominant or recessive known as Thomsen and Becker diseases, respectively.
Here we confirm ...
Miotonía congénita: reporte de un caso
Becker syndrome is a congenital myotonia of autosomal recessive inheritance that is produced by mutations in the skeletal muscle chlorine gene (CLCN1) leading to a defect in its function. It generally begins in childhood ...